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RPS17 Gene

protein-coding   GIFtS: 65
GCID: GC15M082821

Ribosomal Protein S17
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Aliases
for RPS17 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ribosomal Protein S171 2     40S Ribosomal Protein S172
DBA42 5     RPS17L2
RPS17L12 5     S172
RPS17L22 5     

External Ids:    HGNC: 103971   Entrez Gene: 62182   Ensembl: ENSG000001847797   OMIM: 1804725   UniProtKB: P087083   

Export aliases for RPS17 gene to outside databases

Previous GC identifers: GC15M079008 GC15M076138 GC15M080395 GC15M080536 GC15M080608 GC15M059476


Summaries
for RPS17 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RPS17 Gene:
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit.
Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This
gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family
of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there
are multiple processed pseudogenes of this gene dispersed through the genome. (provided by RefSeq, Jul 2008)

GeneCards Summary for RPS17 Gene:
RPS17 (ribosomal protein S17) is a protein-coding gene. Diseases associated with RPS17 include rps17-related diamond-blackfan anemia, and diamond-blackfan anemia 4. GO annotations related to this gene include structural constituent of ribosome. An important paralog of this gene is RPS17L.

Gene Wiki entry for RPS17 Gene


Genomic Views
for RPS17 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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TryGeneCards Plus		 Regulatory elements:
   Regulatory transcription factor binding sites in the RPS17 gene promoter:
         COUP-TF1   COUP   HNF-4alpha2   E4BP4   HNF-4alpha1   HNF-1A   S8   COUP-TF   HNF-1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RPS17 promoter sequence
   Search Chromatin IP Primers for RPS17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPS17


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q   Ensembl cytogenetic band:  15q25.2   HGNC cytogenetic band: 15q

RPS17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPS17 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M082821:  view genomic region     (about GC identifiers)

Start:
 82,821,158 bp from pter      End:
 82,824,972 bp from pter
Size:
 3,815 bases      Orientation:
 minus strand

Proteins
for RPS17 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RS17_HUMAN, P08708 (See protein sequence)
Recommended Name: 40S ribosomal protein S17  
Size: 135 amino acids; 15550 Da
1 PDB 3D structure from and Proteopedia for RPS17:
3J3A (3D)    
Secondary accessions: B2R4U4

Explore the universe of human proteins at neXtProt for RPS17: NX_P08708

Explore proteomics data for RPS17 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys19, Lys49, Lys59, Lys72, Lys107, Lys129
  • Modification sites at PhosphoSitePlus

    • See RPS17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001012.1  
    ENSEMBL proteins: 
     ENSP00000346045   ENSP00000453564   ENSP00000452655   ENSP00000452696  
    Reactome Protein details: P08708

    RPS17 Human Recombinant Protein Products:

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    OriGene Custom MassSpec
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    Novus Biologicals RPS17 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RPS17

    RPS17 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals RPS17 Antibodies
    Abcam antibodies for RPS17 (P0CW22, P08708)
    Cloud-Clone Corp. Antibodies for RPS17
    Search ThermoFisher Antibodies for RPS17
    LSBio Antibodies in human, mouse, rat for RPS17

    RPS17 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
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    Cloud-Clone Corp. ELISAs for RPS17
    Cloud-Clone Corp. CLIAs for RPS17

    Domains /
    Families
    for RPS17 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 HGNC Gene Families:
    RPS: S ribosomal proteins

    2 InterPro protein domains:
     IPR018273 Ribosomal_S17e_CS
     IPR001210 Ribosomal_S17e

    Graphical View of Domain Structure for InterPro Entry P08708

    ProtoNet protein and cluster: P08708

    1 Blocks protein domain: IPB001210 Ribosomal protein S17e

    UniProtKB/Swiss-Prot: RS17_HUMAN, P08708
    Similarity: Belongs to the ribosomal protein S17e family


    RPS17 for domains           About GeneDecksing


    Function
    for RPS17 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for RPS17:
    40S ribosomal protein S17,15kDa

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003735structural constituent of ribosome NAS17647292
    GO:0044822poly(A) RNA binding IDA--
         
    RPS17 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for RPS17:
     Cytoplasmic 40S maturation def  Decreased viability  Increased S DNA content  Nucleolar pre-40S maturation d 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RPS17
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RPS17

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RPS17
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RPS17

    miRNA
    Products:            		miRTarBase miRNAs that target RPS17:
    hsa-mir-30a-5p (MIRT049945), hsa-mir-222-3p (MIRT046624), hsa-mir-320a (MIRT044696), hsa-mir-615-3p (MIRT039783), hsa-mir-30d-5p (MIRT047810), hsa-mir-16-5p (MIRT051166), hsa-mir-148a-3p (MIRT048036)

    Block miRNA regulation of human, mouse, rat RPS17 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate RPS17
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for RPS17
    Predesigned siRNA for gene silencing in human, mouse, rat RPS17

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for RPS17

    Clone
    Products:             		 OriGene clones in human, mouse for RPS17 (see all 6)
    OriGene ORF clones in mouse, rat for RPS17
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RPS17 (NM_001021)
    Sino Biological Human cDNA Clone for RPS17
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RPS17
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPS17

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for RPS17 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS17


    Localization
    for RPS17 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005840ribosome NAS3240863
    GO:0022627cytosolic small ribosomal subunit IDA15883184

    RPS17 for ontologies           About GeneDecksing


    Pathways & Interactions
    for RPS17 gene

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RPS17 About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1CFTR translational fidelity class I mutations
    		CFTR translational fidelity class I mutations 0.60
    		Ribosome0.54
    		Cytoplasmic Ribosomal Proteins0.60
    2Influenza Viral RNA Transcription and Replication
    		Viral mRNA Translation0.94
    		Eukaryotic Translation Initiation0.89
    		Peptide chain elongation0.94
    		Cap-dependent Translation Initiation0.89
    		Nonsense Mediated Decay Independent of the Exon Junction Complex0.94
    		Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.89
    		Formation of a pool of free 40S subunits0.94
    		Nonsense-Mediated Decay0.89
    3Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
    		Translation initiation complex formation0.91
    		Ribosomal scanning and start codon recognition0.91
    		Formation of the ternary complex, and subsequently, the 43S complex0.91
    		Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S0.90
    4Gene Expression
    		Gene Expression0.40
    5Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    		Metabolism of proteins0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for RPS17
        CFTR translational fidelity (class I mutations)

    1 BioSystems Pathway for RPS17
        Cytoplasmic Ribosomal Proteins


    Selected Reactome Pathways for RPS17 (see all 12)
        Peptide chain elongation
    Formation of the ternary complex, and subsequently, the 43S complex
    Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
    Viral mRNA Translation
    GTP hydrolysis and joining of the 60S ribosomal subunit


    1 Kegg Pathway  (Kegg details for RPS17):
        Ribosome


    RPS17 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RPS17
    Interactions:

        Search GeneGlobe Interaction Network for RPS17

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RPS17 (P087082, 3 ENSP000003460454) via UniProtKB, MINT, STRING, and/or I2D (see all 373)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPS16P622492, 3, ENSP000002514534MINT-8044024 I2D: score=1 STRING: ENSP00000251453
    MAP3K14Q995582, 3MINT-48887 I2D: score=2 
    ENSG00000096150P622693, ENSP000002113724I2D: score=3 STRING: ENSP00000211372
    ENSG00000223367P622693, ENSP000004125834I2D: score=3 STRING: ENSP00000412583
    ENSG00000226225P622693, ENSP000004031754I2D: score=3 STRING: ENSP00000403175
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000028ribosomal small subunit assembly IBA--
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0006364rRNA processing IMP18697920
    GO:0006412translation TAS--
    GO:0006413translational initiation TAS--

    RPS17 for ontologies           About GeneDecksing



    Drugs & Compounds
    for RPS17 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RPS17 (RS17)



    Transcripts
    for RPS17 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RPS17 gene: 
    NM_001021.3  

    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330339(uc002bhr.1 uc021ssu.1) ENST00000560151 ENST00000559187
    ENST00000560826 ENST00000560977 ENST00000559636 ENST00000560084 ENST00000560652
    ENST00000559854 ENST00000560024
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat RPS17 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate RPS17
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RPS17
    Clone
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    OriGene ORF clones in mouse, rat for RPS17
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RPS17 (NM_001021)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RPS17
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPS17
    Primer
    Products:            		OriGene qPCR primer pairs and template standards for RPS17
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RPS17
      QuantiTect SYBR Green Assays in human, mouse, rat RPS17
      QuantiFast Probe-based Assays in human, mouse, rat RPS17

    Selected AceView cDNA sequences (see all 2925):

    BQ961732 BE277510 BQ689486 AA100259 BE259635 AW327844 AW197160 BM841531 
    BQ682440 BE018962 BU845076 BE407190 AI424764 BG291467 AA371531 BQ949434 
    BM918016 AI818016 CR618357 BQ959691 BG164256 BG754205 BG770424 BM551200 

    GeneLoc Exon Structure


    Expression
    for RPS17 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RPS17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCGCGTTC
    RPS17 Expression
    About this image


    RPS17 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Endoderm (Gastrulation Derivatives)
             Endoderm-like cells
     
     Tonsil (Hematopoietic System)
    RPS17 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    RPS17 Protein Expression
        Custom PCR Arrays for RPS17
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RPS17
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS17

    Orthologs
    for RPS17 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RPS17 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Rps171 , 5 ribosomal protein S171, 5 89.14(n)1
    99.26(a)1    		   7 (45.71 cM)5
    200681  NM_009092.31  NP_033118.11 
     813427325 
    chicken
    (Gallus gallus)    		 Aves RPS17L1 ribosomal protein S17-like 83.95(n)
    98.52(a)    		   374053  NM_204217.1  NP_989548.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 Uncharacterized protein
    		 99(a)
    		 1 → many
    		 GL343479.1(636199-639072)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.83372 Xenopus laevis transcribed sequence with strong similarity more 79.49(n)    CB943667.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii BQ418878.12   -- 83(n)    BQ418878.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta RpS173 protein biosynthesis structural
    constituent of more    		 79(a)   3 67B4   --
    worm
    (Caenorhabditis elegans)    		 Secernentea rps-171 , 3 40S ribosomal protein S173
    rps-171    		 71(a)3
    69.49(n)1
    73.73(a)1    		   I(6228214-6228815)3
    1723131  NM_059394.51  NP_491795.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes RPS17B(YDR447C)4
    RPS17A1    		 Ribosomal protein 51 (rp51) of the small (40s) subunit; more4
    RPS17A1    		 63.61(n)1
    69.72(a)1    		   4(1355553-1354829)4
    8549841  NP_013688.11  8520584 
     NP_010735.14 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G052201 AT2G05220 58.2(n)
    62.7(a)    		   815070  NM_126548.4  NP_565320.1 
    rice
    (Oryza sativa)    		 Liliopsida Os.463712 Transcribed sequence with weak similarity to protein more 71.13(n)    CB966919.1 


    ENSEMBL Gene Tree for RPS17 (if available)
    TreeFam Gene Tree for RPS17 (if available)

    Paralogs
    for RPS17 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RPS17 gene
    RPS17L2  
    2 SIMAP similar genes for RPS17 using alignment to 2 protein entries:     RS17_HUMAN (see all proteins):
    RPS17L    LOC392101

    RPS17 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for RPS17 (see all 26)
    PGOHUM00000242480 PGOHUM00000247171 PGOHUM00000237351 PGOHUM00000244323 PGOHUM00000262142


    Genomic Variants
    for RPS17 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RPS17 (see all 12)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1168408111,2
    		Cpathogenic182824835(-) CAACAG/TGGTAG 2 R M mis10--------
    rs10437341,2,4
    		----see VAR_0344782 mis40--------
    rs1422623041,2
    		----82823390(+) GTGACA/GTAACT 2 Y syn10--------
    rs1476951121,2
    		----82825597(+) TCAGGC/TACCTT 1 -- us2k10--------
    rs1488102471,2
    		----82822408(+) GCAGGC/GAGATT 1 -- int10--------
    rs1168408121,2
    		--pathogenic182823348(-) AGTAA-/GAGGTAT 2 Y G fra10--------
    rs1404537001,2
    		----82823466(+) ATGTGC/GATATA 1 -- int10--------
    rs1470557891,2
    		----82823632(+) CCCCCA/CACTCG 1 -- int10--------
    rs1412937301,2
    		----82826010(+) TTTTTG/TTTTTT 1 -- us2k10--------
    rs3687419661,2
    		----82824697(+) GGAAGC/TGCCGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for RPS17 (82821158 - 82824972 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RPS17 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33165CNV Loss17666407
    nsv510669CNV Loss20534489
    nsv483125CNV Loss15286789
    nsv428309CNV Gain18775914
    nsv833071CNV Gain17160897
    nsv904446CNV Gain21882294
    nsv471686CNV Gain+Loss15918152
    esv21531CNV Gain+Loss19812545
    nsv9285CNV Gain+Loss18304495
    esv22027CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): RPS17
    Locus Specific Mutation Databases (LSDB): RPS17

    Site Specific Mutation Identification with PCR Assays
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    Disorders / Diseases
    for RPS17 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 180472   
    OMIM disorders: 612527  
    UniProtKB/Swiss-Prot: RS17_HUMAN, P08708
  • Diamond-Blackfan anemia 4 (DBA4) [MIM:612527]: A form of Diamond-Blackfan anemia, a congenital
    non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is
    characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing
    leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the
    most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
    Note=The disease is caused by mutations affecting the gene represented in this entry

    • 20 diseases for RPS17:    
    About MalaCards
    rps17-related diamond-blackfan anemia    diamond-blackfan anemia 4    reactive arthritis    hepatitis e
    pure red-cell aplasia    macrocytic anemia    diamond-blackfan anemia 1    diamond-blackfan anemia
    aplastic anemia    cleft palate    short stature    influenza
    ataxia    arthritis    hiv-1    hepatitis
    multiple myeloma    malaria    myeloma    leukemia

    1 disease from the University of Copenhagen DISEASES database for RPS17:
    Aplastic anemia

    RPS17 for disorders           About GeneDecksing

    GeneTests: RPS17
    GeneReviews: RPS17
    Genetic Association Database (GAD): RPS17
    Human Genome Epidemiology (HuGE) Navigator: RPS17 (2 documents)

    Export disorders for RPS17 gene to outside databases

    Publications
    for RPS17 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RPS17 gene, integrated from 10 sources (see all 69):
    (articles sorted by number of sources associating them with RPS17)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. [Mapping the genes for ribosomal proteins S14 and S17 on human chromosomes using cDNA from a panel of hybrid cells]. (PubMed id 7661859)1, 3, 9 Filipenko M.L....Mertvetsov N.P. (Bioorg. Khim. 1995)
    2. Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. (PubMed id 20378560)1, 4 Konno Y....Ito E. (Haematologica 2010)
    3. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. (PubMed id 19061985)1, 2 Gazda H.T....Beggs A.H. (Am. J. Hum. Genet. 2008)
    4. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. (PubMed id 17647292)1, 2 Cmejla R.... Pospisilova D. (Hum. Mutat. 2007)
    5. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)1, 2 Zody M.C....Nusbaum C. (Nature 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Characterization of the human small-ribosomal-subunit proteins by N- terminal and internal sequencing, and mass spectrometry. (PubMed id 8706699)1, 2 Vladimirov S.N.... Otto A. (Eur. J. Biochem. 1996)
    9. The mapping of seven intron-containing ribosomal protein genes shows they are unlinked in the human genome. (PubMed id 1577483)1, 3 Feo S....Fried M. (Genomics 1992)
    10. The transcriptionally active human ribosomal protein S17 gene. (PubMed id 3240863)1, 2 Chen I.-T. and Roufa D.J. (Gene 1988)

    External Searches for RPS17 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing RPS17 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 6218 HGNC: 10397 AceView: RPS17 Ensembl:ENSG00000184779 euGenes: HUgn6218
    ECgene: RPS17 Kegg: 6218 H-InvDB: RPS17

    Other Databases showing RPS17 gene

    (According to HUGE)
    About This Section

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    Specialized Databases showing RPS17 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RPS17 Pharmacogenomics, SNPs, Pathways
    Diamond-Blackfan Anemia mutation databasehttp://www.dbagenes.unito.it/home.php?select_db=RPS17

    Intellectual Property
    for RPS17 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for RPS17 gene:
    Search GeneIP for patents involving RPS17

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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